Die familiäre Erythrozytose 2 ist eine autosomal rezessive Erkrankung, die durch Mutationen des VHL-Gens hervorgerufen wird. Die Mutationen im von Hippel-Lindau Gen führen zu einer verstärkten Transkription von hypoxie-induzierbaren Genen. Diese Erkrankung ist weitgehend benigne.
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Orphanet article Orphanet ID 98427![]() |
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